Background: Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement.
Case report: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs). Our results revealed the presence of severe central afferent dysfunction in both optical pathways.
Conclusion: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.
Keywords: angelman syndrome; children; visual evoked potentials.